Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing
Qiliang Ding, Jagadheshwar Balan, Noemi Vidal‐Folch, Angela M. Pickart, Guangchao Sun, Jesse R. Walsh, Ramanath Majumdar, Eric W. Klee, Stephen J. Murphy, Devin Oglesbee, Ross A. Rowsey, Linda Hasadsri
This study uses long-read sequencing to re-evaluate the pathogenicity of intragenic DMD duplications, finding that many are non-tandem and likely benign.
medRxiv · Apr 10, 2025 · PreprintGenetic & Genomic Medicine